Article
Mutational signatures and increased retrotransposon insertions in xeroderma pigmentosum variant skin tumors.
Carcinogenesis - 18 Aug 2023
Corradi Camila, Vilar Juliana B, Buzatto Vanessa C, de Souza Tiago A, Castro Ligia P, Munford Veridiana, De Vecchi Rodrigo, Galante Pedro A F, Orpinelli Fernanda, Miller Thiago L A, Buzzo José L, Sotto Mirian N, Saldiva Paulo, de Oliveira Jocelânio W, Chaibub Sulamita C W, Sarasin Alain, Menck Carlos F M
Abstract excerpt
Xeroderma pigmentosum variant (XP-V) is an autosomal recessive disease with an increased risk of developing cutaneous neoplasms in sunlight-exposed regions. These cells are deficient in the translesion synthesis (TLS) DNA polymerase eta, responsible for bypassing different types of DNA lesions. From the exome sequencing of 11 skin tumors of a genetic XP-V patients' cluster, classical mutational signatures related...
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